Independent of DAZL-T54A Variant and AZF Microdeletion in a Sample of Egyptian Patients with Idiopathic Non-obstructed Azoospermia

Overview

Journal Appl Clin Genet

Publisher Dove Medical Press

Specialty Genetics

Date 2018 Jul 28

PMID 30050315

Citations 1

Authors

Mohammed M El Shafae

Jehan H Sabry

Eman G Behiry

Hanan H Sabry

Mona A Salim

Alaaeldin G Fayez

Affiliations

Soon will be listed here.

Abstract

Background: The microdeletion events that occur in the Y chromosome-azoospermia factor () region may lead to dyszoospermia. Also, the deleted azoospermia () gene on AZFc and autosomal deleted azoospermia like gene () are suggested to represent impairment, so it is interesting to determine the independency pattern of the region and gene in azoospermic patients.

Aim: To study the molecular characterization of and in 64 idiopathic non-obstructed azoospermia patients and 30 sexually reproductive men.

Methods: SYBR Green I (Q-PCR) and AZF-STS analysis was used for gene, and SNV-PCR and confirmative Sanger sequencing for L gene.

Results: The present study observed that 15.6% had c microdeletion, out of which 10% had deletion, and no variant in the gene was found.

Conclusion: In the current work, the novelty is that spermatogenic impairment phenotype, present with microdeletions, is independent of the variant in the gene, and microdeletions could be a causative agent in spermatogenic impairment.

Citing Articles

Detection of AZF microdeletions and reproductive hormonal profile analysis of infertile sudanese men pursuing assisted reproductive approaches.

Elsaid H, Gadkareim T, Abobakr T, Mubarak E, Abdelrhem M, Abu D BMC Urol. 2021; 21(1):69.

PMID: 33892694 PMC: 8063358. DOI: 10.1186/s12894-021-00834-3.

References

Hucklenbroich K, Gromoll J, Heinrich M, Hohoff C, Nieschlag E, Simoni M . Partial deletions in the AZFc region of the Y chromosome occur in men with impaired as well as normal spermatogenesis. Hum Reprod. 2004; 20(1):191-7. DOI: 10.1093/humrep/deh558. View

Krausz C, Forti G, McElreavey K . The Y chromosome and male fertility and infertility. Int J Androl. 2003; 26(2):70-5. DOI: 10.1046/j.1365-2605.2003.00402.x. View

Reynolds N, Cooke H . Role of the DAZ genes in male fertility. Reprod Biomed Online. 2005; 10(1):72-80. DOI: 10.1016/s1472-6483(10)60806-1. View

Goncalves C, Cunha M, Rocha E, Fernandes S, Silva J, Ferraz L . Y-chromosome microdeletions in nonobstructive azoospermia and severe oligozoospermia. Asian J Androl. 2016; 19(3):338-345. PMC: 5427791. DOI: 10.4103/1008-682X.172827. View

Writzl K, Zorn B, Peterlin B . Copy number of DAZ genes in infertile men. Fertil Steril. 2005; 84(5):1522-5. DOI: 10.1016/j.fertnstert.2005.06.021. View

Bartoloni L, Cazzadore C, Ferlin A, Garolla A, Foresta C . Lack of the T54A polymorphism of the DAZL gene in infertile Italian patients. Mol Hum Reprod. 2004; 10(8):613-5. DOI: 10.1093/molehr/gah073. View

Lu C, Zhang J, Li Y, Xia Y, Zhang F, Wu B . The b2/b3 subdeletion shows higher risk of spermatogenic failure and higher frequency of complete AZFc deletion than the gr/gr subdeletion in a Chinese population. Hum Mol Genet. 2008; 18(6):1122-30. DOI: 10.1093/hmg/ddn427. View

Ye J, Coulouris G, Zaretskaya I, Cutcutache I, Rozen S, Madden T . Primer-BLAST: a tool to design target-specific primers for polymerase chain reaction. BMC Bioinformatics. 2012; 13:134. PMC: 3412702. DOI: 10.1186/1471-2105-13-134. View

Livak K, Schmittgen T . Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods. 2002; 25(4):402-8. DOI: 10.1006/meth.2001.1262. View

10.

Teng Y, Chang Y, Tseng J, Kuo P, Lee I, Lee M . A single-nucleotide polymorphism of the DAZL gene promoter confers susceptibility to spermatogenic failure in the Taiwanese Han. Hum Reprod. 2012; 27(9):2857-65. DOI: 10.1093/humrep/des227. View

11.

Teng Y, Lin Y, Sun H, Hsu P, Chung C, Kuo P . Association of DAZL haplotypes with spermatogenic failure in infertile men. Fertil Steril. 2006; 86(1):129-35. DOI: 10.1016/j.fertnstert.2005.12.027. View

12.

Fernandes S, Huellen K, Goncalves J, Dukal H, Zeisler J, Rajpert De Meyts E . High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia. Mol Hum Reprod. 2002; 8(3):286-98. DOI: 10.1093/molehr/8.3.286. View

13.

Simoni M, Bakker E, Krausz C . EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004. Int J Androl. 2004; 27(4):240-9. DOI: 10.1111/j.1365-2605.2004.00495.x. View

14.

Foresta C, Moro E, Ferlin A . Y chromosome microdeletions and alterations of spermatogenesis. Endocr Rev. 2001; 22(2):226-39. DOI: 10.1210/edrv.22.2.0425. View

15.

Vogt P, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F . Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet. 1996; 5(7):933-43. DOI: 10.1093/hmg/5.7.933. View

16.

Ombelet W, Cooke I, Dyer S, Serour G, Devroey P . Infertility and the provision of infertility medical services in developing countries. Hum Reprod Update. 2008; 14(6):605-21. PMC: 2569858. DOI: 10.1093/humupd/dmn042. View

17.

Skaletsky H, Kuroda-Kawaguchi T, Minx P, Cordum H, Hillier L, Brown L . The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature. 2003; 423(6942):825-37. DOI: 10.1038/nature01722. View

18.

Visser L, Westerveld G, Korver C, van Daalen S, Hovingh S, Rozen S . Y chromosome gr/gr deletions are a risk factor for low semen quality. Hum Reprod. 2009; 24(10):2667-73. DOI: 10.1093/humrep/dep243. View

19.

Tuttelmann F, Rajpert-De Meyts E, Nieschlag E, Simoni M . Gene polymorphisms and male infertility--a meta-analysis and literature review. Reprod Biomed Online. 2007; 15(6):643-58. DOI: 10.1016/s1472-6483(10)60531-7. View

20.

Repping S, Skaletsky H, Brown L, van Daalen S, Korver C, Pyntikova T . Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat Genet. 2003; 35(3):247-51. DOI: 10.1038/ng1250. View